Varaico: Literature-Extracted Genetic Variants

NR0B1

471 papers

RefSeq Summary

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein...

Pfam Domains

NR_Repeataa 1–49UCSCNuclear receptor repeat

NR_Repeataa 68–115UCSCNuclear receptor repeat

NR_Repeataa 134–182UCSCNuclear receptor repeat

NR_Repeataa 201–246UCSCNuclear receptor repeat

Hormone_recepaa 249–453UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 0 group B member 1

HGNC Previous Symbols

AHC; DSS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000475.5

p.Q305*

c.913C>T

Surrounding Variants

3 papers

NM_000475.5

p.Q305fs

c.913_914fs

1 paper

NM_000475.5

p.Q305R

c.914A>G

3 papers

NM_000475.5

p.Q305delFs

c.915delC

1 paper

NM_000475.5

p.F306L

c.918C>G

2 papers

NM_000475.5

p.E307*

c.919G>T

1 paper

NM_000475.5

p.R303C

c.907C>T

1 paper

NM_000475.5

p.Q301*

c.901C>T

2 papers

NM_000475.5

p.V309G

c.926T>G

18 papers

NM_000475.5

p.A300V

c.899C>T

10 papers

NM_000475.5

p.A300P

c.898G>C

1 paper

NM_000475.5

p.E310K

c.928G>A

1 paper

NM_000475.5

p.L299insFs

c.895_896dupCT